A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6671341



Internal ID10086290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:167004606..167004658hg38UCSC Ensembl
Outerchr6:167418094..167418146hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2733215, esv2733213, esv2733214
Supporting Variants
SamplesSSM031
Known GenesFGFR1OP
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)essv6671341
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer